A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard–Soulier syndrome: case report

We need to be aware of rare causes of persistent thrombocytopenia as Bernard–Soulier syndrome (BSS). When BSS is suspected based on family history and giant platelets, genetic test for mutations of GPIbIXV is necessary. Management varies once you recognize the cause. Platelets transfusion and antifi...

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Detalles Bibliográficos
Autores principales: Alsahafi, Imtinan K., Al‐Harbi, Ibrahim, Aldor, Shahad M., Albarakati, Bilqis A., Alahmadi, Ghaida B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889233/
https://www.ncbi.nlm.nih.gov/pubmed/29636940
http://dx.doi.org/10.1002/ccr3.1427
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author Alsahafi, Imtinan K.
Al‐Harbi, Ibrahim
Aldor, Shahad M.
Albarakati, Bilqis A.
Alahmadi, Ghaida B.
author_facet Alsahafi, Imtinan K.
Al‐Harbi, Ibrahim
Aldor, Shahad M.
Albarakati, Bilqis A.
Alahmadi, Ghaida B.
author_sort Alsahafi, Imtinan K.
collection PubMed
description We need to be aware of rare causes of persistent thrombocytopenia as Bernard–Soulier syndrome (BSS). When BSS is suspected based on family history and giant platelets, genetic test for mutations of GPIbIXV is necessary. Management varies once you recognize the cause. Platelets transfusion and antifibrinolytics are the mainstay of therapy.
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spelling pubmed-58892332018-04-10 A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard–Soulier syndrome: case report Alsahafi, Imtinan K. Al‐Harbi, Ibrahim Aldor, Shahad M. Albarakati, Bilqis A. Alahmadi, Ghaida B. Clin Case Rep Case Reports We need to be aware of rare causes of persistent thrombocytopenia as Bernard–Soulier syndrome (BSS). When BSS is suspected based on family history and giant platelets, genetic test for mutations of GPIbIXV is necessary. Management varies once you recognize the cause. Platelets transfusion and antifibrinolytics are the mainstay of therapy. John Wiley and Sons Inc. 2018-02-27 /pmc/articles/PMC5889233/ /pubmed/29636940 http://dx.doi.org/10.1002/ccr3.1427 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Alsahafi, Imtinan K.
Al‐Harbi, Ibrahim
Aldor, Shahad M.
Albarakati, Bilqis A.
Alahmadi, Ghaida B.
A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard–Soulier syndrome: case report
title A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard–Soulier syndrome: case report
title_full A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard–Soulier syndrome: case report
title_fullStr A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard–Soulier syndrome: case report
title_full_unstemmed A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard–Soulier syndrome: case report
title_short A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard–Soulier syndrome: case report
title_sort point mutation in phe71ser in glycoprotein ix as a genetic cause of bernard–soulier syndrome: case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889233/
https://www.ncbi.nlm.nih.gov/pubmed/29636940
http://dx.doi.org/10.1002/ccr3.1427
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